ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.532G>A (p.Val178Ile) (rs118203395)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164135 SCV000214750 likely benign Hereditary cancer-predisposing syndrome 2018-04-27 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)
Invitae RCV000228124 SCV000284730 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724965 SCV000484491 uncertain significance not provided 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000122198 SCV000518098 likely benign not specified 2018-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000228124 SCV000928337 uncertain significance Tuberous sclerosis 1 2018-02-27 criteria provided, single submitter clinical testing PP3
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724965 SCV001155803 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165738 SCV001327970 benign Focal cortical dysplasia type II 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000228124 SCV001327971 likely benign Tuberous sclerosis 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Tuberous sclerosis database (TSC1) RCV000042305 SCV000066094 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122198 SCV000086417 not provided not specified 2013-09-19 no assertion provided reference population

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